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	esophageal atresia

Disease ID	731
Disease	esophageal atresia
Definition	Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA.
Synonym	atresia esophageal atresia esophagus atresia of esophagus atresia, esophageal atresias, esophageal congenital atresia of esophagus congenital atresia of esophagus (disorder) congenital atresia of oesophagus congenital esophageal atresia congenital imperforate esophagus esophageal atresia [disease/finding] esophageal atresias esophagus atresia esophagus, atresia esophagus--atresia imperforate esophagus imperforate esophagus (disorder) imperforate oesophagus oa - esophageal atresia oa - oesophageal atresia oesophageal atresia oesophageal atresia (disorder)
Orphanet	ORPHANET:1199
DOID	DOID:10485
UMLS	C0014850
MeSH	D004933
SNOMED-CT	SNOMEDCT_US_2016_09_01:26179002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0019284 \| diaphragmatic hernia \| 5 C0948187 \| tracheomalacia \| 3 C0014868 \| esophagitis \| 3 C0341106 \| eosinophilic esophagitis \| 3 C0003466 \| anal atresia \| 2 C0034194 \| pyloric stenosis \| 2 C0003466 \| imperforate anus \| 2 C0010308 \| congenital hypothyroidism \| 1 C0018818 \| ventricular septal defect \| 1 C0026010 \| microphthalmos \| 1 C0152096 \| trisomy 18 \| 1 C0700639 \| hypertrophic pyloric stenosis \| 1 C0020676 \| hypothyroidism \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2944 \| GSTM1 \| CIPHER 2950 \| GSTP1 \| CIPHER 2952 \| GSTT1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:56) 174 \| AFP \| 1.96 \| DISEASES 650 \| BMP2 \| 1.022 \| DISEASES 655 \| BMP7 \| 1.335 \| DISEASES 659 \| BMPR2 \| 1.667 \| DISEASES 6046 \| BRD2 \| 1.243 \| DISEASES 773 \| CACNA1A \| 1.162 \| DISEASES 815 \| CAMK2A \| 1.928 \| DISEASES 23066 \| CAND2 \| 1.561 \| DISEASES 55636 \| CHD7 \| 3.676 \| DISEASES 192668 \| CYS1 \| 1.491 \| DISEASES 51071 \| DERA \| 2.166 \| DISEASES 9343 \| EFTUD2 \| 4.572 \| DISEASES 23741 \| EID1 \| 1.904 \| DISEASES 1999 \| ELF3 \| 1.362 \| DISEASES 83481 \| EPPK1 \| 2.645 \| DISEASES 80712 \| ESX1 \| 1.274 \| DISEASES 2187 \| FANCB \| 1.598 \| DISEASES 2246 \| FGF1 \| 2.319 \| DISEASES 2253 \| FGF8 \| 1.836 \| DISEASES 2263 \| FGFR2 \| 1.962 \| DISEASES 2303 \| FOXC2 \| 1.048 \| DISEASES 2300 \| FOXL1 \| 1.994 \| DISEASES 2736 \| GLI2 \| 2.901 \| DISEASES 2737 \| GLI3 \| 2.707 \| DISEASES 160897 \| GPR180 \| 1.671 \| DISEASES 2859 \| GPR35 \| 2.148 \| DISEASES 3200 \| HOXA3 \| 3.241 \| DISEASES 3239 \| HOXD13 \| 3.052 \| DISEASES 9682 \| KDM4A \| 1.115 \| DISEASES 8022 \| LHX3 \| 1.478 \| DISEASES 56955 \| MEPE \| 1.322 \| DISEASES 64779 \| MTHFSD \| 3.591 \| DISEASES 7080 \| NKX2-1 \| 2.334 \| DISEASES 9241 \| NOG \| 3.324 \| DISEASES 4842 \| NOS1 \| 1.207 \| DISEASES 8021 \| NUP214 \| 1.284 \| DISEASES 5053 \| PAH \| 1.75 \| DISEASES 84875 \| PARP10 \| 2.949 \| DISEASES 5125 \| PCSK5 \| 2.332 \| DISEASES 5449 \| POU1F1 \| 1.332 \| DISEASES 5831 \| PYCR1 \| 1.343 \| DISEASES 9939 \| RBM8A \| 1.932 \| DISEASES 10165 \| SLC25A13 \| 1.003 \| DISEASES 55315 \| SLC29A3 \| 2.164 \| DISEASES 6657 \| SOX2 \| 3.37 \| DISEASES 6658 \| SOX3 \| 1.565 \| DISEASES 128153 \| SPATA17 \| 3.333 \| DISEASES 6899 \| TBX1 \| 2.49 \| DISEASES 10732 \| TCFL5 \| 1.14 \| DISEASES 6949 \| TCOF1 \| 1.258 \| DISEASES 7020 \| TFAP2A \| 1.081 \| DISEASES 55503 \| TRPV6 \| 1.171 \| DISEASES 7319 \| UBE2A \| 2.302 \| DISEASES 7415 \| VCP \| 1.488 \| DISEASES 51741 \| WWOX \| 1.111 \| DISEASES 9189 \| ZBED1 \| 3.623 \| DISEASES
Locus	(Waiting for update.)

Disease ID	731
Disease	esophageal atresia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:37) HP:0002575 \| Tracheoesophageal fistula \| 80 HP:0000776 \| Diaphragmatic hernia \| 5 HP:0100633 \| Inflammation of the esophagus \| 4 HP:0011968 \| Feeding difficulties \| 4 HP:0100790 \| Hernia \| 4 HP:0010450 \| Narrowing of the esophagus \| 3 HP:0002779 \| Tracheomalacia \| 3 HP:0002023 \| Anal atresia \| 2 HP:0002021 \| Pyloric stenosis \| 2 HP:0012020 \| Right aortic arch \| 2 HP:0010497 \| Sirenomelia \| 2 HP:0001518 \| Small for gestational age \| 2 HP:0030707 \| Unilateral pulmonary agenesis \| 1 HP:0100807 \| Long fingers \| 1 HP:0002786 \| Tracheobronchomalacia \| 1 HP:0005321 \| Mandibulofacial dysostosis \| 1 HP:0000568 \| Abnormally small globe of eye \| 1 HP:0010310 \| Chylothorax \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0030853 \| Heterotaxy \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0008750 \| Laryngeal atresia \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0000201 \| Pierre-robin deformity \| 1 HP:0000851 \| Congenital hypothyroidism \| 1 HP:0003690 \| Limb weakness \| 1 HP:0002043 \| Esophageal stricture \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0011623 \| Type 4 ventricular septal defect \| 1 HP:0001057 \| Aplasia cutis congenita \| 1 HP:0010775 \| Vascular ring \| 1 HP:0025025 \| Vestibular fistula \| 1 HP:0005347 \| Cartilaginous trachea \| 1

Disease ID	731
Disease	esophageal atresia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:30) C1550639 \| fistula C1417174 \| mckusick-kaufman syndrome C1301752 \| respiratory morbidity C0948187 \| tracheomalacia C0848337 \| gastric distention C0700208 \| scoliosis C0520905 \| postoperative vomiting C0494752 \| diaphragmatic hernia C0426576 \| gastrointestinal symptoms C0340213 \| tracheal diverticulum C0269145 \| cervical fistula C0265794 \| azygos lobe C0265343 \| vertebral anomalies C0221163 \| motor disorders C0085207 \| maternal diabetes C0040588 \| tracheoesophageal fistula C0040583 \| tracheal stenosis C0038357 \| stomach rupture C0037205 \| sirenomelia C0037090 \| respiratory symptoms C0032285 \| pneumonia C0026010 \| microphthalmos C0021933 \| intussusception C0019270 \| hernia C0017168 \| gastroesophageal reflux C0014866 \| esophageal stenosis C0014866 \| esophageal stenoses C0013949 \| embryopathy C0013080 \| trisomy 21 C0005411 \| biliary atresia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:10) C0016169 \| fistula \| 80 C0040588 \| tracheoesophageal fistula \| 80 C0019284 \| diaphragmatic hernia \| 5 C0019270 \| hernia \| 4 C0948187 \| tracheomalacia \| 3 C0014866 \| esophageal stenosis \| 3 C0037205 \| sirenomelia \| 2 C0009814 \| stenosis \| 1 C0026010 \| microphthalmos \| 1 C0426576 \| gastrointestinal symptoms \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893805	16543359	6657	SOX2	umls:C0014850	BeFree	A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2.	0.000814326	2006	SOX2;SOX2-OT	3	181712581	G	C
rs1695	23828841	2944	GSTM1	umls:C0014850	BeFree	Recently, the GST family, especially the GSTM1 null genotype (but not the GSTP1 polymorphism I105V), has been associated with esophageal atresia.	0.002909916	2013	GSTP1	11	67585218	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	731
Disease	esophageal atresia
Case	(Waiting for update.)

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